Monday, January 2, 2012

Cerebrocostomandibular Syndrome

Cerebrocostomandibular Syndrome is an extremely rare inherited disorder characterized by an abnormally small jaw (micrognathia), malformations of the roof of the mouth (palate), improper positioning of the tongue (glossoptosis), and abnormal development of the ribs (rib dysplasia). There have been only between 60-75 cases diagnosed.  In most cases, such abnormalities contribute to respiratory problems (insufficiency) during early infancy. Although some affected individuals have normal intelligence, others exhibit moderate to severe cognitive delays. Although research suggests that cerebrocostomandibular syndrome is usually inherited as an autosomal recessive genetic trait, some cases have also been documented in the medical literature that suggest autosomal dominant inheritance.

Micrognathia, cleft hard palate, rib gap anomalies (gaps or missing).  Some children have hearing and vision problems.  Most cognitive delays are as a result of lack of oxygen due to respiratory distress.
Children with CCMS always have Pierre Robin's Sequence (small jaw, cleft palate).  What distinguishes CCMS from PRS is the rib gap anomaly.

genetic testing with reports sent to large skeletal centers like Cedars Sinai in California

Treat the symptoms, not the syndrome.  Cleft palates are repaired around 12 months.  Rib gaps can be left to calcify on their own, or additional bone grafts and rib implants can be done.  Tracheostomies are often necessary to ensure proper respiratory function. 

Resources (info non Pierre Robin's Sequence) (Titanium rib explanation and support group)
There is no specialist because the syndrome is so rare.
Abigail's story
We found out at 20 weeks that Abigail had a small jaw. After getting a level two sonogram done at University of Maryland Medical Center, she was diagnosed with micrognathia and Pierre Robin's Sequence. 

At 29 weeks, we went to our local hospital where I was found to be in preterm labor. I was flown by helicopter to UMMC, where my labor was stopped. Polyhydraminos (excess fluid caused by Abby's inability to swallow) was causing my body to constantly go into labor, so I was closely monitored at the hospital for the next month. During my stay, I had two amnioreductions where doctors took off a total of over two liters of fluid. 
I was sent home at 34 weeks to be on strict bed rest and continue to take the labor-preventing medicine. Two days later on October 21st, I went into active labor with Abby. Matt and I made it to the hospital just in time, because I was eight centimeters when I arrived! 

Shortly after midnight at 12:12 a.m. on October 22nd after a speedy delivery, Abby was born weighing 4 lbs and measuring 17 inches long. They took her immediately to begin working on her, but we were able to see her very briefly before they took her downstairs.

We went down to see her around 2 a.m., where we were told she had a rib deformity where her ribs are in multiple pieces. Later that morning, we met with the geneticist who gave us the difficult news of Abby's diagnosis: cerebrocostomandibular syndrome. It affects the brain, ribs, and jaw. This is an extremely rare syndrome that has only affected approximately 60 people ever. There are currently roughly 7 children alive today with the syndrome. 

No one really knew what was going to happen, and the doctors really didn't have much hope. We were told if she did survive, Abby wouldn't be much more than a vegetable.  She wouldn't be able to hear, see, or sit up on her own.  Abby spent the first five days of her life struggling to breath until she had an emergency tracheostomy on October 27th after a failed intubation. She had a g-tube placed on November 16th so that she could get the nutrition she needs without a tube in her nose.

The statistics say that Abby shouldn't have made it this far. In fact, she probably shouldn't have been born alive. Thankfully, Abby doesn't know that and is continuing to fight hard! As long as she is willing to fight, we will not be giving up on her either. There are so many people praying for us and we are so thankful for the love and support.

Abby moved from the NICU to a pediatric rehabilitation hospital on December 2nd and finally came home on January 18th. It was one of the happiest days of our lives and a huge answer to prayer!

Since we've been home, we have learned a ton about the "joys" of home nursing, medical red tape, federal health care, and anatomy! We have also had many many miracles occur in the life of our girl. For one, Abby's crooked and hunched spine are now completely straight! When one of the best pediatric spinal surgeons in the world gives you this news, you run with it! Abby's ribs are calcifying, and the gaps close to the sternum have closed up. This is allowing her rib cage to be much stronger and to work better than it was. Unless something changes, it does not appear that she will need to have rib surgery. At the present, Abby is only using the ventilator at night, and there are plans to kick the vent out once and for all!  My "vegetable" is now standing while holding onto something and scooting across the floor.  I have a feeling she'll be crawling before we know it! 

This has been quite a journey, but we are so thankful to God for giving Abby a fighting spirit. That spunkiness has helped her to make it this far and has been such an encouragement to us! We love our little girl unconditionally and will do anything we can to help her and support her development. 

We have been amazed again and again by God's grace and faithfulness to us. He has provided in ways we never could have imagined, and we know that He has chosen us to be Abby's parents. It is not our job to question why He gave her CCMS; our job is to love Abby and raise her to love God!

Contributed by MOM Julie Leach

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